Human Phenotype Ontology 
Grandparent Node:
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Opacification of the corneal stroma (HP:0007759)help
Parent Node:
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Central opacification of the cornea (HP:0011493)help
..Starting node
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Central corneal dystrophy (HP:0007881)help
Term ID: 7881
Name: Central corneal dystrophy
Synonym:
Definition:
Comments:
Reference: HP:0007881
Genes and Diseases:
 
       Child Nodes:
........expandMosaic central corneal dystrophy (HP:0100690) help

 Sister Nodes: 
..expandBand keratopathy (HP:0000585) help
..expandCentral posterior corneal opacity (HP:0008511) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007881HP:0007881Central corneal dystrophy0TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007881HP:0007881Central corneal dystrophy0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040281 - Very frequent58
HP:0007881HP:0100690Mosaic central corneal dystrophy1 CL E G H
HP:0007881HP:0032935Posterior crocodile shagreen of the cornea1 CL E G H


Genes (1) :TGFBI

Diseases (2) :ORPHA:98962 ORPHA:98960
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.